Suchergebnisse - "Humans"

PubPharm (69.498)

101

A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024

von Jin, S. | Sun, Z. | Fang, X. | +4

102

c.202_204del in NUP214 causes late onset form of febrile encephalopathy

enthalten in: American journal of medical genetics. Part A | 2024

von Farooqui, S. | Narayanan, D. | Mascarenhas, S. | +4

103

Rapid diurnal variation of serous retinal detachment during BRAF and MEK inhibitor treatment : A case series

enthalten in: Acta ophthalmologica | 2024

von Bravetti, G. | Muggler, K. | Ben Aissa, A. | +2

104

BIRC-3 mutated monoclonal B lymphocytosis without evolution to chronic lymphocytic leukemia (CLL)

enthalten in: Leukemia & lymphoma | 2024

von Nasr, A. | Fund, X. | Barreau, S. | +6

105

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome

enthalten in: Molecular genetics and genomics : MGG | 2024

von Billon, C. | Piccoli, G. | de Sainte Agathe, J. | +7

106

Incidental Detection of TFEB-Amplified Renal Cell Carcinoma by Colocated Gene Amplification of CCND3 (6p21) : A Case Report and Review of the Literature

enthalten in: International journal of surgical pathology | 2024

von Repetto, F. | Sirohi, D. | Greipp, P. | +1

107

A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 Variant of Uncertain Significance

enthalten in: Internal medicine (Tokyo, Japan) | 2024

von Matsubayashi, H. | Kiyozumi, Y. | Harada, R. | +10

108

Serious Bacterial Infections Associated with Eculizumab : A Pharmacovigilance Study

enthalten in: Internal medicine (Tokyo, Japan) | 2024

von Okusa, S. | Takizawa, T. | Imai, S. | +5

109

Intrahepatic Cholangiocarcinoma with High Microsatellite Instability and Tumor Mutation Burden That Responded Significantly to Pembrolizumab but Perforated within a Short Period

enthalten in: Internal medicine (Tokyo, Japan) | 2024

von Yamazaki, S. | Kubota, K. | Shimizu, A. | +9

110

Double somatic mosaicism in Cornelia de Lange syndrome

enthalten in: American journal of medical genetics. Part A | 2024

von Pezzani, L. | Pezzoli, L. | Rosina, E. | +9